Mutagenetix > Incidental Mutation

Incidental Mutation 'R6681:Gm15448'

527498

Institutional Source

Beutler Lab

Gene Symbol

Gm15448

Ensembl Gene

ENSMUSG00000074419

Gene Name

predicted gene 15448

Synonyms

ENSMUSG00000074419

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R6681 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3816781-3825687 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3822252 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 464 (M464L)

Ref Sequence

ENSEMBL: ENSMUSP00000140974 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094911] [ENSMUST00000108619] [ENSMUST00000108620] [ENSMUST00000153846] [ENSMUST00000189095]

AlphaFold

F6PZL4

Predicted Effect

probably benign
Transcript: ENSMUST00000094911

SMART Domains

Protein: ENSMUSP00000092515
Gene: ENSMUSG00000074419

Domain	Start	End	E-Value	Type
IG_like	40	105	3.26e0	SMART
IG	129	315	1.37e-1	SMART
IG_like	237	302	2.2e-1	SMART
IG	328	415	6.31e-1	SMART
IG	430	519	8.01e-3	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000108619
AA Change: M464L

SMART Domains

Protein: ENSMUSP00000104259
Gene: ENSMUSG00000074419
AA Change: M464L

Domain	Start	End	E-Value	Type
IG_like	40	105	3.26e0	SMART
IG	129	315	1.37e-1	SMART
IG_like	237	302	2.2e-1	SMART
IG	328	415	6.31e-1	SMART
IG_like	429	517	6.02e0	SMART
IG	529	618	8.01e-3	SMART
low complexity region	637	646	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108620

SMART Domains

Protein: ENSMUSP00000104260
Gene: ENSMUSG00000074419

Domain	Start	End	E-Value	Type
IG_like	40	105	3.26e0	SMART
IG	129	315	1.37e-1	SMART
IG_like	237	302	2.2e-1	SMART
IG	328	415	6.31e-1	SMART
IG	430	519	8.01e-3	SMART
low complexity region	538	547	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000153846
AA Change: M464L

SMART Domains

Protein: ENSMUSP00000121707
Gene: ENSMUSG00000074419
AA Change: M464L

Domain	Start	End	E-Value	Type
IG	7	96	8.01e-3	SMART
low complexity region	132	141	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189095
AA Change: M464L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000140974
Gene: ENSMUSG00000074419
AA Change: M464L

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG_like	40	105	1.3e-2	SMART
IG	129	315	5.7e-4	SMART
IG_like	237	302	9e-4	SMART
IG	328	415	2.6e-3	SMART
IG_like	429	517	2.4e-2	SMART
IG	529	618	3.3e-5	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	T	3: 122,121,798	T971S	probably damaging	Het
Catsperb	C	T	12: 101,624,735	Q1021*	probably null	Het
Ccdc62	A	G	5: 123,934,093	T62A	probably benign	Het
Cuzd1	A	G	7: 131,311,683	S402P	probably damaging	Het
Dcun1d1	C	T	3: 35,895,670	V244M	probably damaging	Het
Dennd2c	A	G	3: 103,131,661	T42A	probably benign	Het
Dnah7a	T	C	1: 53,521,226		probably null	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Dpp4	A	T	2: 62,348,549	F607L	probably benign	Het
Ech1	C	T	7: 28,830,338		probably null	Het
Fam53a	A	G	5: 33,607,840	L174P	probably damaging	Het
Fh1	T	C	1: 175,619,124	D62G	probably null	Het
Gpatch11	T	C	17: 78,840,099	I103T	probably damaging	Het
Hmgcll1	A	T	9: 76,081,449	T169S	probably benign	Het
Kbtbd3	A	T	9: 4,330,687	I354F	probably benign	Het
Kdm5b	T	C	1: 134,613,269	F700L	possibly damaging	Het
Mamdc4	C	A	2: 25,567,744	G439V	probably damaging	Het
Mrps30	A	T	13: 118,380,598	S362T	probably damaging	Het
Mug1	C	T	6: 121,838,724	S29L	possibly damaging	Het
Myh2	G	A	11: 67,178,348	D328N	probably damaging	Het
Olfr1106	T	C	2: 87,048,598	T213A	probably benign	Het
Olfr1404	C	A	1: 173,216,406	H252N	probably damaging	Het
Olfr1450	A	G	19: 12,954,459	Y290C	probably damaging	Het
Olfr969	T	A	9: 39,795,414	I13N	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pus7l	G	A	15: 94,527,865	P552S	probably benign	Het
Rest	A	G	5: 77,280,997	K421R	probably damaging	Het
Rttn	C	A	18: 89,014,611	H668N	probably damaging	Het
Scn9a	T	C	2: 66,563,342	I228V	possibly damaging	Het
Scp2	G	T	4: 108,091,316	Q155K	probably damaging	Het
Sec61a2	G	A	2: 5,876,408	R18*	probably null	Het
Serpinb8	T	A	1: 107,597,591	M41K	probably damaging	Het
Sgsm2	A	T	11: 74,865,378	W382R	probably damaging	Het
Slc26a10	G	T	10: 127,173,661	T606N	possibly damaging	Het
Slc30a6	T	C	17: 74,404,032	I40T	possibly damaging	Het
Slfn5	G	A	11: 82,956,378	E30K	possibly damaging	Het
Sorcs2	C	A	5: 36,397,810	R79L	probably benign	Het
Tmc5	G	A	7: 118,669,304	S865N	probably damaging	Het
Tmprss11c	T	A	5: 86,289,260	M1L	possibly damaging	Het
Trpv5	C	G	6: 41,653,354	E601Q	probably damaging	Het
Ttc39b	A	T	4: 83,240,048		probably benign	Het
Ttll6	T	A	11: 96,138,863	C201S	probably damaging	Het
Vezt	A	G	10: 93,996,997	V204A	probably benign	Het
Vmn1r45	T	A	6: 89,934,003		probably benign	Het
Zfp433	A	T	10: 81,720,888	H408L	probably damaging	Het
Zfp865	T	C	7: 5,029,451	I145T	possibly damaging	Het

Other mutations in Gm15448

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Gm15448	APN	7	3823089	missense	probably damaging	1.00
IGL01675:Gm15448	APN	7	3822608	splice site	probably benign
IGL02040:Gm15448	APN	7	3821517	splice site	probably benign
IGL02547:Gm15448	APN	7	3821661	missense	probably damaging	0.98
IGL02749:Gm15448	APN	7	3822625	missense	probably damaging	1.00
IGL02822:Gm15448	APN	7	3816918	missense	possibly damaging	0.50
IGL02883:Gm15448	APN	7	3822180	missense	possibly damaging	0.95
IGL03140:Gm15448	APN	7	3823248	missense	probably benign	0.00
IGL03185:Gm15448	APN	7	3823230	missense	probably damaging	1.00
IGL03212:Gm15448	APN	7	3823133	missense	probably benign	0.00
R0347:Gm15448	UTSW	7	3822874	missense	probably damaging	1.00
R0652:Gm15448	UTSW	7	3822763	missense	probably benign	0.02
R0668:Gm15448	UTSW	7	3822700	missense	probably damaging	0.99
R0724:Gm15448	UTSW	7	3816872	missense	possibly damaging	0.83
R0735:Gm15448	UTSW	7	3821782	missense	possibly damaging	0.79
R1074:Gm15448	UTSW	7	3823070	missense	probably damaging	1.00
R1339:Gm15448	UTSW	7	3822156	missense	probably damaging	1.00
R1541:Gm15448	UTSW	7	3816989	missense	probably damaging	1.00
R1570:Gm15448	UTSW	7	3823061	missense	probably benign	0.45
R1880:Gm15448	UTSW	7	3824951	critical splice donor site	probably null
R1892:Gm15448	UTSW	7	3824574	missense	probably benign	0.15
R1909:Gm15448	UTSW	7	3822919	missense	probably benign	0.31
R2881:Gm15448	UTSW	7	3825641	start codon destroyed	probably null	0.98
R2967:Gm15448	UTSW	7	3822687	missense	probably damaging	1.00
R2983:Gm15448	UTSW	7	3821575	missense	probably damaging	1.00
R4213:Gm15448	UTSW	7	3821554	missense	probably damaging	1.00
R4319:Gm15448	UTSW	7	3822755	missense	possibly damaging	0.46
R4320:Gm15448	UTSW	7	3822755	missense	possibly damaging	0.46
R4321:Gm15448	UTSW	7	3822755	missense	possibly damaging	0.46
R4322:Gm15448	UTSW	7	3822755	missense	possibly damaging	0.46
R4323:Gm15448	UTSW	7	3822755	missense	possibly damaging	0.46
R4536:Gm15448	UTSW	7	3822252	missense	probably benign	0.00
R4597:Gm15448	UTSW	7	3822155	missense	possibly damaging	0.81
R4713:Gm15448	UTSW	7	3822681	nonsense	probably null
R4725:Gm15448	UTSW	7	3821548	missense	probably benign
R4934:Gm15448	UTSW	7	3822677	missense	probably damaging	1.00
R4971:Gm15448	UTSW	7	3822806	missense	probably benign	0.00
R5138:Gm15448	UTSW	7	3824557	nonsense	probably null
R5805:Gm15448	UTSW	7	3822623	missense	probably benign	0.15
R5824:Gm15448	UTSW	7	3824754	missense	probably damaging	1.00
R5841:Gm15448	UTSW	7	3822899	nonsense	probably null
R6027:Gm15448	UTSW	7	3824639	missense	possibly damaging	0.94
R6214:Gm15448	UTSW	7	3821718	missense	probably damaging	0.99
R6329:Gm15448	UTSW	7	3822851	missense	probably damaging	1.00
R6429:Gm15448	UTSW	7	3822346	missense	possibly damaging	0.63
R6650:Gm15448	UTSW	7	3816899	missense	possibly damaging	0.83
R6961:Gm15448	UTSW	7	3825125	missense	probably damaging	1.00
R6989:Gm15448	UTSW	7	3822164	missense	possibly damaging	0.95
R7025:Gm15448	UTSW	7	3821262	nonsense	probably null
R7071:Gm15448	UTSW	7	3821668	missense	unknown
R7194:Gm15448	UTSW	7	3824793	missense
R7215:Gm15448	UTSW	7	3822311	missense	unknown
R7580:Gm15448	UTSW	7	3824612	missense	unknown
R7776:Gm15448	UTSW	7	3823247	missense	unknown
R7863:Gm15448	UTSW	7	3824802	critical splice acceptor site	probably null
R7909:Gm15448	UTSW	7	3821709	missense	unknown
R8131:Gm15448	UTSW	7	3822162	nonsense	probably null
R8178:Gm15448	UTSW	7	3821261	missense	unknown
R8188:Gm15448	UTSW	7	3823127	missense	unknown
R8220:Gm15448	UTSW	7	3822904	missense	unknown
R8226:Gm15448	UTSW	7	3825110	missense
R8441:Gm15448	UTSW	7	3823302	nonsense	probably null
R8739:Gm15448	UTSW	7	3825189	missense
R8785:Gm15448	UTSW	7	3816929	missense	unknown
R8912:Gm15448	UTSW	7	3822819	missense	unknown
R8941:Gm15448	UTSW	7	3822381	missense	probably damaging	1.00
R8990:Gm15448	UTSW	7	3821274	missense	unknown
R9049:Gm15448	UTSW	7	3816891	missense	unknown
R9090:Gm15448	UTSW	7	3816998	missense	unknown
R9134:Gm15448	UTSW	7	3822183	missense
R9136:Gm15448	UTSW	7	3823286	missense
R9244:Gm15448	UTSW	7	3822227	missense	unknown
R9271:Gm15448	UTSW	7	3816998	missense	unknown
R9328:Gm15448	UTSW	7	3824581	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGCTACTCACCTGGGATCAG -3'
(R):5'- TTCTCGAACACAGCCCTGATTG -3'

Sequencing Primer
(F):5'- GATCAGGATCAGGACGTCCAC -3'
(R):5'- GGCAAATGTGTTTGGTAAGAACC -3'

Posted On

2018-07-23